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Cystic fibrosis presenting as acute pancreatitis and obstructive azoospermia in a young adult male with a novel mutation in the CFTR gene
Author(s) -
Conway Steven P.,
Peckham Daniel G.,
Chu Carol E.,
Ellis Lucy A.,
Ahmed Mushtaq,
Taylor Graham R.
Publication year - 2002
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.10190
Subject(s) - medicine , cystic fibrosis , cystic fibrosis transmembrane conductance regulator , hereditary pancreatitis , pancreatitis , azoospermia , pancreatic disease , ivacaftor , acute pancreatitis , vas deferens , gastroenterology , obstructive azoospermia , male infertility , pathology , pancreas , infertility , trypsinogen , genetics , biology , pregnancy , biochemistry , trypsin , enzyme
Cystic fibrosis is rare in the Asian population, and is often associated with consanguinity and rare genotypes. We report on a 23‐year‐old Asian man from a consanguineous pedigree referred to the regional cystic fibrosis unit after a diagnosis of congenital bilateral absence of the vas deferens during investigations for infertility. A detailed history revealed several previous episodes of acute pancreatitis. Full diagnostic appraisal showed homozygosity for a novel cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation, but normal sweat test and nasal potential difference studies. An endoscopic retrograde cholangiopancreatogram (ERCP) showed chronic pancreatitis with bulky side branches. The vas deferens and the pancreas appeared exquisitely sensitive to mild CFTR dysfunction. Patients with cystic fibrosis and unexplained upper abdominal pain should be screened for pancreatitis, and consideration should be given to screening patients with idiopathic pancreatitis for mutations in the CFTR gene. Pediatr Pulmonol. 2002; 34:491–495. © 2002 Wiley‐Liss, Inc.